Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508479 | SCV005020306 | uncertain significance | Cardiovascular phenotype | 2023-12-29 | criteria provided, single submitter | clinical testing | The p.S287R variant (also known as c.861C>G), located in coding exon 4 of the SNTA1 gene, results from a C to G substitution at nucleotide position 861. The serine at codon 287 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |